Canonical Allele Identifier: CA119184

Linked Data

ClinVar Variation Id: 7959
dbSNP Id: rs74315340

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636706C>T , CM000663.2:g.171636706C>T GRCh38
NC_000001.10:g.171605846C>T , CM000663.1:g.171605846C>T GRCh37
NC_000001.9:g.169872469C>T NCBI36
NG_008859.1:g.20928G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.734G>A (MYOC) MANE Select ENSP00000037502.5:p.Cys245Tyr
ENST00000637303.1:c.235-1924C>T (MYOCOS) ENSP00000490048.1:n.235-1924C>T
ENST00000638471.1:c.*72G>A (MYOC) ENSP00000491206.1:n.*72G>A
ENST00000037502.10:c.734G>A (MYOC) ENSP00000037502.5:p.Cys245Tyr
ENST00000614688.1:c.734G>A (MYOC) ENSP00000478680.1:p.Cys245Tyr
NM_000261.1:c.734G>A (MYOC) NP_000252.1:p.Cys245Tyr
NM_000261.2:c.734G>A (MYOC) MANE Select NP_000252.1:p.Cys245Tyr